| 000 | 01539 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516070438.0 | ||
| 264 | 0 | _c20121130 | |
| 008 | 201211s 0 0 eng d | ||
| 022 | _a1573-7292 | ||
| 024 | 7 |
_a10.1007/s10689-011-9499-x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCelestino, Ricardo | |
| 245 | 0 | 0 |
_aA novel germline SDHB mutation in a gastrointestinal stromal tumor patient without bona fide features of the Carney-Stratakis dyad. _h[electronic resource] |
| 260 |
_bFamilial cancer _cJun 2012 |
||
| 300 |
_a189-94 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aAsparagine _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGastrointestinal Neoplasms _xgenetics |
| 650 | 0 | 4 |
_aGastrointestinal Stromal Tumors _xgenetics |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIsoleucine _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aParaganglioma, Extra-Adrenal _xetiology |
| 650 | 0 | 4 |
_aSuccinate Dehydrogenase _xgenetics |
| 700 | 1 | _aLima, Jorge | |
| 700 | 1 | _aFaustino, Alexandra | |
| 700 | 1 | _aMáximo, Valdemar | |
| 700 | 1 | _aGouveia, António | |
| 700 | 1 | _aVinagre, João | |
| 700 | 1 | _aSoares, Paula | |
| 700 | 1 | _aLopes, José Manuel | |
| 773 | 0 |
_tFamilial cancer _gvol. 11 _gno. 2 _gp. 189-94 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10689-011-9499-x _zAvailable from publisher's website |
| 999 |
_c21383372 _d21383372 |
||